List of variants in gene PLP1, RAB9B studied for Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000533.5(PLP1):c.-31C>T	rs2233695	0.00152
NM_000533.5(PLP1):c.168A>G (p.Gln56=)	rs2233697	0.00150
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr)	rs1060500909
NM_000533.5(PLP1):c.398A>T (p.His133Leu)
NM_000533.5(PLP1):c.41C>A (p.Ala14Asp)	rs1569427243
NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)	rs746949269
NM_000533.5(PLP1):c.789C>G (p.Tyr263Ter)

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